Characterization of DupEx2 Duchenne Muscular Dystrophy

Launched by IRCCS SAN RAFFAELE · Mar 22, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a specific type of Duchenne Muscular Dystrophy (DMD) caused by a duplication of a part of the gene called exon 2, known as Dup2. The researchers want to learn more about how this condition affects muscle movement, breathing, and heart function over time. They are particularly interested in whether patients with Dup2 experience milder symptoms compared to those with more common forms of DMD. The study will involve collecting clinical information and genetic samples from 26 patients to help improve our understanding of how this type of mutation affects the disease's progression.

To be eligible for this trial, patients must be confirmed to have the Dup2 mutation in the dystrophin gene, which is responsible for DMD, and they can be either children or adults. Those without a confirmed genetic test showing the Dup2 mutation will not be included. Participants can expect regular monitoring of their health, including motor skills, breathing, and heart function, and their genetic information will be used to help explore the relationship between their specific mutation and the severity of their symptoms. This research aims to provide valuable insights that could lead to better treatment options tailored to this particular group of DMD patients.

Gender

MALE

Eligibility criteria

• Inclusion Criteria:
• • pediatric and adult DMD patients harboring a genetically confirmed duplication of the exon 2 in the dystrophin gene
• Exclusion Criteria:
• • patients lacking genetic confirmation of Dup2 mutation